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    Sex Matters: Interfering with the Oxidative Stress Response in Pachyonychia Congenita.
    J Invest Dermatol 2018 May;138(5):1019-1022
    Institute of Molecular and Cellular Anatomy, Rheinisch-Westfälische Technische Hochschule Aachen University, Aachen, Germany.
    Pachyonychia congenita is an incurable and often debilitating genodermatosis. Topical application of the antioxidative response inducer sulforaphane, however, alleviates disease symptoms in a murine pachyonychia congenita model, forecasting clinical benefits. The Coulombe laboratory now reports sex-dependent differences in sulforaphane responsiveness of pachyonychia congenita mice, thereby dampening treatment expectations but also unveiling novel aspects of sex-specific oxidative stress reactivity in the epidermis. Read More

    The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.
    Exp Dermatol 2018 Feb 6. Epub 2018 Feb 6.
    Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
    The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16 mice develop oral lesions early after birth and PC-like PPK lesions as young adults. Read More

    Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
    PLoS Genet 2018 Jan 22;14(1):e1007168. Epub 2018 Jan 22.
    Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States of America.
    Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. Read More

    Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.
    Br J Dermatol 2018 Jan 6. Epub 2018 Jan 6.
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    palmoplantar keratodermas (PPKs, OMIM #144200) refer to a large phenotypically and genetically heterogeneous group of keratinisation disorders characterised by marked hyperkeratosis on the surface of the palms and soles. This article is protected by copyright. All rights reserved. Read More

    Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.
    J Invest Dermatol 2018 May 24;138(5):1094-1100. Epub 2017 Dec 24.
    Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Department of Biological Chemistry, Johns Hopkins University, Baltimore, Maryland, USA; Department of Dermatology, Johns Hopkins University, Baltimore, Maryland, USA; Department of Oncology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland, USA. Electronic address:
    Sex is an influential factor regarding pathophysiology and therapeutic response in human disease. Pachyonychia congenita is caused by mutations in keratin genes and typified by dystrophic lesions affecting nails, glands, oral mucosa, and palmar-plantar epidermis. Painful palmar-plantar keratoderma (PPK) severely impairs mobility in pachyonychia congenita. Read More

    Cutaneous Cysts with Nail Dystrophy in a Young Female: A Classical Association.
    Indian J Dermatol 2017 Nov-Dec;62(6):661-664
    Department of Dermatology, Venereology and Leprosy, School of Tropical Medicine, Kolkata, West Bengal, India.
    Pachyonychia Congenita (PC) refers to a group of autosomal dominant disorders with variable clinical presentations. While nail dystrophy and plantar keratoderma are the most consistent features in all the variants, a myriad of other manifestations has been observed. This report highlights a case of young female presenting with multiple asymptomatic cutaneous cysts associated with plantar kearatoderma and nail dystrophy. Read More

    Chronic pain in Pachyonychia Congenita: evidence for neuropathic origin.
    Br J Dermatol 2017 Dec 6. Epub 2017 Dec 6.
    Department of Physical Therapy, Sackler Faculty of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, 69978, Israel.
    Background: Pachyonychia congenita (PC) is a rare autosomal dominant skin disease with chronic pain being the most prominent complaint. Histological studies showing alterations in sensory innervation along with few reports on alterations in mechanical sensitivity suggest that PC may be a form of neuropathy.

    Objective: To systematically evaluate sensory function of PC patients vs. Read More

    First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.
    Maedica (Buchar) 2017 Jun;12(2):123-126
    Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
    Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. Read More

    The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond.
    Br J Dermatol 2017 Oct 31. Epub 2017 Oct 31.
    Department of Dermatology, University of California, Irvine, Irvine, CA, U.S.A.
    There is growing evidence that botulinum neurotoxins (BoNTs) exhibit biological effects on various human cell types with a host of associated clinical implications. This review aims to provide an update on the non-neuronal and nonmuscular effects of botulinum toxin. We critically analysed recent reports on the structure and function of cellular signalling systems subserving biological effects of BoNTs. Read More

    Management of Plantar Keratodermas.
    J Am Podiatr Med Assoc 2017 Sep;107(5):428-435
    Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. Read More

    Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
    Acta Dermatovenerol Croat 2017 Jul;25(2):161-163
    Assist. Prof. Tasleem Arif, MD, MBSS (Dermatology, STD AND Leprosy) Postgraduate Department of Dermatology, STDs and Leprosy Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India;
    Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy. Read More

    Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
    Indian J Dermatol 2017 Jul-Aug;62(4):422-426
    School of Life Sciences, Division of Biological Chemistry and Drug Discovery, Dermatology and Genetic Medicine, University of Dundee, Dundee, UK.
    Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, , , , , or . The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Read More

    Proteomic profiling of Pachyonychia congenita plantar callus.
    J Proteomics 2017 Aug 23;165:132-137. Epub 2017 Jun 23.
    Proteomics Core Facility, University of California, Davis, CA.
    Callus samples from the ball and the arch of the foot, collected on tape circles, were compared by shotgun proteomic profiling. Pachyonychia congenita subjects were sampled who exhibited a mutation in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, and the proteins were digested and analyzed by tandem mass spectrometry. In comparison with samples from unaffected control subjects, those from subjects with KRT6A or KRT16 mutations displayed the most differences in profile from normal, while those from subjects with KRT6C or KRT17 mutations showed few differences from normal. Read More

    Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.
    Br J Dermatol 2017 May 27;176(5):1144-1147. Epub 2017 Mar 27.
    Pachyonychia Congenita Project, Salt Lake City, UT, U.S.A.
    The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S. Read More

    Steatocystoma multiplex suppurativa: case report of a rare condition.
    An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):51-53
    Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.
    Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. Read More

    Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
    Br J Dermatol 2017 May 2;176(5):1345-1350. Epub 2017 Apr 2.
    Department of Dermatology, University Hospital Crosshouse, Kilmarnock, U.K.
    The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Read More

    [Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].
    Pan Afr Med J 2016 1;24:183. Epub 2016 Jul 1.
    Service de Néphrologie, CHU Mohamed VI, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc.
    Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. Read More

    Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.
    Clin Exp Dermatol 2016 Dec 27;41(8):884-889. Epub 2016 Oct 27.
    Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.
    Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. Read More

    Peripheral neuropathic changes in pachyonychia congenita.
    Pain 2016 Dec;157(12):2843-2853
    aDepartment of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA bPachyonychia Congenita Project, Salt Lake City, UT, USA cDepartment of Dermatology, University of Utah Health Sciences Center, Salt Lake City, UT, USA dDepartment of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD, USA eBlizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom fDepartments of Neurosurgery, Biological Chemistry, Neuroscience, and the Neurosurgery Pain Research Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corresponding locations in 10 control subjects. Tissue was processed to visualize intraepidermal nerve fibers (IENF) (PGP9. Read More

    Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.
    J Laryngol Otol 2017 Jul 20;131(S2):S53-S56. Epub 2016 Oct 20.
    Department of Paediatric Otolaryngology,Starship Children's Hospital,Auckland,New Zealand.
    Background: Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction.

    Methods: A case report is presented and the findings of a literature review are reported. Read More

    Pachyonychia congenita with late onset (PC tarda).
    Indian Dermatol Online J 2016 Jul-Aug;7(4):278-80
    Department of Dermatology, Maharajah's Institute of Medical Sciences, Nellimarla, Andhra Pradesh, India.
    Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. Read More

    Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
    Br J Dermatol 2017 Jan 24;176(1):270-274. Epub 2016 Sep 24.
    Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.

    Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.
    J Clin Invest 2016 Jun 16;126(6):2356-66. Epub 2016 May 16.
    Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by oxidative stress in footpad skin of Krt16-/- mice and correlates with an inability of keratinocytes to sustain nuclear factor erythroid-derived 2 related factor 2-dependent (NRF2-dependent) synthesis of the cellular antioxidant glutathione (GSH). Read More

    Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex.
    J Cosmet Laser Ther 2016 Nov 19;18(7):364-366. Epub 2016 Jul 19.
    b Department of Dermatology , University of California Irvine , Irvine , CA , USA.
    Steatocystoma multiplex is a well-recognized condition in which subjects develop dermal cysts generally inherited in an autosomal dominant fashion, though these can occur sporadically. This case report describes the successful treatment of a 51-year-old woman with steatocystomata limited to the face, who after two treatments with a fractionated ablative carbon dioxide laser remained free of cysts for three years. We conclude that this treatment should be considered as an efficient and effective treatment option for patients with steatocystoma multiplex. Read More

    Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy.
    A A Case Rep 2016 May;6(10):305-7
    From the *Department of Anesthesiology and Pain Medicine, UT Houston, Texas Medical Center, Houston, Texas; †Arkansas Children's Hospital, Little Rock, Arkansas; and ‡Texas Children's Hospital, Houston, Texas.
    We report the case of an 11-year-old girl who presented to our multidisciplinary pain center with the chief complaint of chronic bilateral foot pain because of a rare congenital keratin disorder. This patient had been diagnosed with pachyonychia congenita, an extremely rare genetic disorder primarily affecting the skin and nails. The child had bilateral foot pain for years because of the characteristic blisters and calluses on the soles of her feet. Read More

    Realizing Our Potential in Biobanking: Disease Advocacy Organizations Enliven Translational Research.
    Biopreserv Biobank 2016 Aug 8;14(4):314-8. Epub 2016 Apr 8.
    8 CFIDS Association of America, Charlotte, North Carolina.
    Biobanks are increasingly powerful tools used in translational research, and disease advocacy organizations (DAOs) are making their presence known as research drivers and partners. We examined DAO approaches to biobanking to inform how the enterprise of biobanking can grow and become even more impactful in human health. In this commentary, we outline overarching approaches from successful DAO biobanks. Read More

    Pachyonychia Congenita Type 1: Case Report and Review of the Literature.
    Indian J Dermatol 2016 Mar-Apr;61(2):196-9
    Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India.
    The case of an 8-year-old boy is hereby reported, who presented with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules all over the body. The features were consistent with a diagnosis of pachyonychia congenita type 1. The case is being reported for its rarity. Read More

    Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
    Pediatr Dermatol 2016 May 4;33(3):337-42. Epub 2016 Apr 4.
    Flinders Medical Centre, Adelaide, South Australia, Australia.
    Background: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17.

    Objectives: Living with Pachyonychia Congenita can be isolating. Read More

    p53 Is a Direct Transcriptional Repressor of Keratin 17: Lessons from a Rat Model of Radiation Dermatitis.
    J Invest Dermatol 2016 Mar 30;136(3):680-9. Epub 2015 Dec 30.
    Institute of Life Sciences, Fuzhou University, Fuzhou, Fujian, China. Electronic address:
    The intermediate filament protein keratin 17 (Krt17) shows highly dynamic and inducible expression in skin physiology and pathology. Because Krt17 exerts physiologically important functions beyond providing structural stability to keratinocytes whereas abnormal Krt17 expression is a key feature of dermatoses such as psoriasis and pachyonychia congenita, the currently unclear regulation of Krt17 expression needs to be better understood. Using a rat model of radiation dermatitis, we report here that Krt17 expression initially is down-regulated but later is strongly up-regulated by ionizing radiation. Read More

    [Congenital pachyonychia: A new case associated with the KRT17 gene].
    An Pediatr (Barc) 2016 Mar 25;84(3):174-6. Epub 2015 Dec 25.
    Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, España; Grupo Clínico vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España. Electronic address:

    Painful plantar keratoderma and onychodystrophy in caucasian young woman.
    Dermatol Online J 2015 Oct 16;21(10). Epub 2015 Oct 16.
    Hospital Universitario Doctor Peset.
    Pachonychia congenita is an uncommon genodermatosis, classified among the disorders of keratinization and caused by mutation of certain keratin genes. The characteristic clinical triad is onychodystrophy, keratoderma, and plantar pain. In addition, the patients may present with epidermal cysts, steatocystomas, leukokeratosis, and deciduous teeth. Read More

    Jadassohn Lewandowsky Syndrome: A Rare Entity.
    Indian J Dermatol 2015 Sep-Oct;60(5):524
    Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.
    Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth. Read More

    Imaging Functional Nucleic Acid Delivery to Skin.
    Methods Mol Biol 2016 ;1372:1-24
    Molecular Imaging Program at Stanford (MIPS), E150 Clark Center, Stanford University School of Medicine, 318 Campus Drive, Stanford, CA, 94305, USA.
    Monogenic skin diseases arise from well-defined single gene mutations, and in some cases a single point mutation. As the target cells are superficial, these diseases are ideally suited for treatment by nucleic acid-based therapies as well as monitoring through a variety of noninvasive imaging technologies. Despite the accessibility of the skin, there remain formidable barriers for functional delivery of nucleic acids to the target cells within the dermis and epidermis. Read More

    Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.
    Case Rep Dermatol 2015 May-Aug;7(2):220-6. Epub 2015 Aug 19.
    Division of Dermatology, McGill University Health Centre, Montreal, Que., Canada.
    Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Read More

    Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases.
    Dermatol Ther 2016 Jan-Feb;29(1):32-6. Epub 2015 Oct 7.
    Department of Dermatology, La Paz University Hospital, Madrid, Spain.
    Pachyonychia congenita (PC) is a rare genodermatosis caused by a mutation in keratin genes, which can lead to hypertrophic nail dystrophy and focal palmoplantar keratoderma (predominantly plantar), amongst other manifestations. Painful blisters and callosities, sometimes exacerbated by hyperhidrosis, are major issues that can have a significant impact on patient quality of life. Many alternative treatments for this condition have been applied with variable and partial clinical response, but a definitive cure for this disease has yet to be discovered. Read More

    Can skin disease cause neuropathic pain? A study in pachyonychia congenita.
    Clin Exp Dermatol 2016 Jan 11;41(1):26-33. Epub 2015 Sep 11.
    Pain Management Research, Solihull Hospital, Heartlands NHS Foundation Trust, Solihull, UK.
    Introduction: Pachyonychia congenita (PC) is a rare skin disorder caused by an autosomal dominant mutation in one of five genes encoding keratin (K6a, K6b, K6c, K16 or K17; each defining one PC subtype). Pain is a prominent symptom, but its severity and type are poorly characterized.

    Methods: In total, 35 genotyped US patients with PC consented to clinical assessment including the quality of life (QoL) questionnaire EQ-5D-3L, the Brief Pain Inventory (BPI) and painDETECT. Read More

    Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls.
    Curr Gene Ther 2015 ;15(5):503-10
    Inserm/UPMC UMR_S974, CNRS FRE3617, Institut de Myologie, Paris, France.
    RNA interference (RNAi) is a conserved mechanism for post-transcriptional gene silencing mediated by messenger RNA (mRNA) degradation. RNAi is commonly induced by synthetic siRNA or shRNA which recognizes the targeted mRNA by base pairing and leads to target-mRNA degradation. RNAi may discriminate between two sequences only differing by one nucleotide conferring a high specificity of RNAi for its target mRNA. Read More

    Non-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.
    Mol Imaging Biol 2016 Feb;18(1):34-42
    TransDerm Inc., 2161 Delaware Ave., Santa Cruz, CA, 95060, USA.
    Purpose: Small interfering RNAs (siRNAs) specifically and potently inhibit target gene expression. Pachyonychia congenita (PC) is a skin disorder caused by mutations in genes encoding keratin (K) 6a/b, K16, and K17, resulting in faulty intermediate filaments. A siRNA targeting a single nucleotide, PC-relevant mutation inhibits K6a expression and has been evaluated in the clinic with encouraging results. Read More

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